Spatial Transcriptomics and Single-Nucleus Multi-Omics Analysis Revealing the Impact of High Maternal Folic Acid Supplementation on Offspring Brain Development.

Folate, an essential vitamin B9, is crucial for diverse biological processes, including neurogenesis. Folic acid (FA) supplementation during pregnancy is a standard practice for preventing neural tube defects (NTDs). However, concerns are growing over the potential risks of excessive maternal FA intake.

Arnold-Chiari Malformations in Pediatric Patients After Fetal Surgery for Meningomyelocele.

(1) : Fetal surgery for meningomyelocele (MMC) should reduce the occurrence of Arnold-Chiari malformations, hydrocephalus, the associated need for craniocervical decompression, and the need for cerebrospinal fluid shunt insertion. Fetal surgery should improve ambulatory status. (2) : We used retrospective analysis of the documentation and descriptive statistics to summarize the clinical data and measured MRI parameters.

CT-based and manual external skull measurements for Chiari-like malformation and syringomyelia in Pomeranians.

Studies in Pomeranians as well as other breeds have looked at clinical signs or external features as predictors of Chiari-like malformation (CM) and syringomyelia (SM). The aim of this study is to describe and analyze morphometric factors of the skull of Pomeranians with and without CM/SM by means of CT as well as manual external measurements. Ninety-two Pomeranians >12 months of age were included that underwent both CT and MRI studies of the head and cervicothoracic vertebral column.

Critical appraisal of the expert knowledge elicitation (EKE) methodology to identify uncertainties in building cumulative assessment groups for craniofacial alterations.

The European Food Safety Authority (EFSA) conducted a retrospective cumulative dietary risk assessment (CRA) on active substances (AS) and metabolites included in the plant protection products registered in Europe which could provoke craniofacial alterations. Two Cumulative Assessment groups (CAGs) were established: one for alterations due to abnormal skeletal development (CAG-DAC) and one for head soft tissue alterations and brain neural tube defects (CAG-DAH). The probability that each substance is correctly assigned to the specific CAGs (CAG-membership probability) was assessed using weight of evidence and expert knowledge elicitation (EKE) techniques conducted for the six substances identified as risk drivers in each CAG.

The DNA demethylase TET1 modifies the impact of maternal folic acid status on embryonic brain development.

Folic acid (FA) is well known to prevent neural tube defects (NTDs), but we do not know why many human NTD cases still remain refractory to FA supplementation. Here, we investigate how the DNA demethylase TET1 interacts with maternal FA status to regulate mouse embryonic brain development. We determined that cranial NTDs display higher penetrance in non-inbred than in inbred Tet1 embryos and are resistant to FA supplementation across strains.

Exposure to the antiretroviral drug dolutegravir impairs structure and neurogenesis in a forebrain organoid model of human embryonic cortical development.

Introduction: For many therapeutic drugs, including antiretroviral drugs used to treat people living with HIV-1 (PLWH), we have little data on the potential effects on the developing human brain due to limited access to tissue and historical constraints on the inclusion of pregnant populations in clinical trials. Human induced pluripotent stem cells (iPSCs) offer a new avenue to gain insight on how drugs may impact human cell types representative of the developing central nervous system. To prevent vertical transmission of HIV and promote the health of pregnant PLWH, antiretroviral therapy must be initiated and/or maintained throughout pregnancy.

Safety and efficacy of human umbilical cord-derived mesenchymal stromal cells in fetal ovine myelomeningocele repair.

Background: The aim of this study was to assess the safety and efficacy of human umbilical cord mesenchymal stromal cells (hUC-MSCs) patch used as an adjuvant therapy in fetal myelomeningocele (MMC) surgery in the ovine model.

Methods: hUC-MSCs were isolated from human umbilical cords (UC) using the explant method, cultured and characterized. hUC-MSCs were then embedded in a fibrin patch.

The Effect of Detethering Surgery on the Bladder Function and Psychology of Children with Primary Tethered Cord Syndrome.

Purpose: Currently, detethering surgery (DS) is the modality most extensively utilized to treat primary Tethered cord syndrome (TCS). Disappointingly, some children without bladder impairment showed a deterioration of bladder function after surgery, which critically influences the health-related quality of life. It was hypothesized that the DS might have a significant effect on bladder function and psychology.

Cost analysis of outpatient services for major external structural birth defects: an ingredient approach in selected hospitals in Kiambu County, Kenya.

Introduction: major external structural birth defects (MESBDs) are known to exert an enormous economic burden on individuals and health services; however, they have been vastly underprioritized as a public health problem in settings where cost analyses are limited. This study aimed at conducting a cost analysis of outpatient services for MESBDs in selected hospitals in Kiambu County, Kenya.

Methods: a cross-sectional descriptive survey was conducted in four hospitals selected for providing outpatient corrective and rehabilitative services to the under-fives.

NSAID-mediated cyclooxygenase inhibition disrupts ectodermal derivative formation in axolotl embryos.

Our lab has identified that transcripts and proteins of the cyclooxygenase (COX-1 and COX-2) isoenzymes are expressed during the early stages of vertebrate embryonic development, and that global COX-1/2 inhibition disrupts neural crest (NC) cell maturation in (axolotl) embryos, with intriguing implications for tissue regeneration and healing. NC cells are embryonic stem cells that differentiate into various adult tissues including craniofacial cartilage, bone, and neurons in the peripheral and enteric nervous systems. Naproxen (NPX), a common non-steroidal anti-inflammatory drug (NSAID) used to relieve pain and inflammation, exerts its effects through COX-1 and COX-2 inhibition.

Proteomic study of cerebrospinal fluid in adult tethered cord syndrome: Chemical structure and function of apolipoprotein B.

Adult tethered cord syndrome (ATCS) has a hidden onset and delayed clinical symptoms. The purpose of this study is to identify hub proteins in the cerebrospinal fluid of ATCS patients through bioinformatics analysis, and to find significant heterogeneity in these proteins between ATCS patients and non ATCS patients (control group). Firstly, differential genes were screened based on proteomic results.

Long-term outcome of transanal irrigation for individuals with spina bifida: a 12-year experience study.

Background: Transanal irrigation (TAI) effectively addresses fecal incontinence and improves quality of life in individuals with spina bifida. Given the scarcity of follow-up studies lasting > 5 years and reports of numerous TAI discontinuations, we assessed the enduring effectiveness and impact of TAI > 10 years after its initiation on the quality of life in individuals with spina bifida.

Methods: We recruited individuals with spina bifida enrolled in a bowel management program who initiated TAI in 2010 and participated in 4-month and 3-year follow-up studies at a spina bifida clinic.

Society for Birth Defects Research and Prevention Symposium: Health Disparities Within Communities of Color.

Background: High-risk pregnancies and birth defects are often greater within communities of color where resources for a healthy pregnancy are generally lacking. Infant and maternal mortality, preterm birth, and instances of increased developmental and physical defects are related to environmental exposures (e.g.

Exposure to drinking water pollutants and non-syndromic birth defects: a systematic review and meta-analysis synthesis.

Objectives: To evaluate the association between drinking water pollutants and non-syndromic birth defects.

Design: Systematic review and meta-analysis synthesis.

Data Sources: A search of MEDLINE, EMBASE and Google Scholar was performed to review relevant citations reporting on birth defects in pregnancies exposed to water pollutants between January 1962 and April 2023.

Management of Massive Iatrogenic Temporal Lobe Meningoencephalocele and Bacterial Meningitis Following Pediatric Cochlear Implant Surgery.

Objective: To review the management of meningitis, large lateral skull base defect, and meningoencephalocele following pediatric cochlear implant (CI) surgery.

Study Design: Case report.

Methods: Patient demographics, medical and surgical history, computed tomography (CT).

Quantitative structure-activity relationships of chemical bioactivity toward proteins associated with molecular initiating events of organ-specific toxicity.

The adverse outcome pathway (AOP) concept has gained attention as a way to explore the mechanism of chemical toxicity. In this study, quantitative structure-activity relationship (QSAR) models were developed to predict compound activity toward protein targets relevant to molecular initiating events (MIE) upstream of organ-specific toxicities, namely liver steatosis, cholestasis, nephrotoxicity, neural tube closure defects, and cognitive functional defects. Utilizing bioactivity data from the ChEMBL 33 database, various machine learning algorithms, chemical features and methods to assess prediction reliability were compared and applied to develop robust models to predict compound activity.

Prenatal Maternal Stress Suppresses Embryonic Neurogenesis via Elevated Glucocorticoid Levels.

Although it is known that prenatal maternal stress (PNMS) has a negative influence on nervous system development in offspring, there is no conclusive evidence clarifying its impact on early neurogenesis during development. In this study, we established a chick embryo model to investigate how PNMS affects early neurogenesis by mimicking an intrauterine environment with elevated dexamethasone levels. The results showed that dexamethasone-mimicked PNMS significantly suppressed the development of gastrula embryos and increased the risks of neural tube defects and cranial deformity.